Incidental Mutation 'IGL02632:Pramel16'
ID |
301330 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel16
|
Ensembl Gene |
ENSMUSG00000078511 |
Gene Name |
PRAME like 16 |
Synonyms |
Pramef25, Gm13109 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL02632
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143675150-143677586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143676507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 199
(I199T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101392
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105766]
|
AlphaFold |
A2ASI9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105766
AA Change: I199T
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101392 Gene: ENSMUSG00000078511 AA Change: I199T
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
223 |
427 |
2e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
T |
C |
8: 41,208,237 (GRCm39) |
V501A |
possibly damaging |
Het |
Alpl |
T |
G |
4: 137,481,217 (GRCm39) |
N145T |
probably damaging |
Het |
Aqp5 |
T |
A |
15: 99,491,216 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
T |
A |
1: 172,108,181 (GRCm39) |
D640V |
possibly damaging |
Het |
Atp5po |
T |
C |
16: 91,725,830 (GRCm39) |
E49G |
probably benign |
Het |
Card14 |
A |
G |
11: 119,229,730 (GRCm39) |
D747G |
probably benign |
Het |
Cfap47 |
A |
T |
X: 78,540,279 (GRCm39) |
L553H |
probably damaging |
Het |
Cpz |
A |
T |
5: 35,669,155 (GRCm39) |
D325E |
possibly damaging |
Het |
Crim1 |
T |
C |
17: 78,680,103 (GRCm39) |
I948T |
probably benign |
Het |
Dpysl3 |
A |
T |
18: 43,526,090 (GRCm39) |
S2T |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 39,056,913 (GRCm39) |
V4203A |
probably benign |
Het |
Gapvd1 |
G |
A |
2: 34,574,186 (GRCm39) |
|
probably benign |
Het |
Gpatch2 |
A |
G |
1: 186,958,178 (GRCm39) |
R155G |
probably damaging |
Het |
Grpr |
A |
T |
X: 162,298,090 (GRCm39) |
V318E |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,667,861 (GRCm39) |
T569A |
probably benign |
Het |
Il3ra |
G |
A |
14: 14,350,807 (GRCm38) |
|
probably null |
Het |
Llgl2 |
A |
G |
11: 115,735,698 (GRCm39) |
H98R |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,493,628 (GRCm39) |
D663G |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,650,647 (GRCm39) |
N205S |
probably damaging |
Het |
Mamdc2 |
C |
T |
19: 23,308,340 (GRCm39) |
E521K |
probably benign |
Het |
Mapre2 |
A |
G |
18: 23,991,217 (GRCm39) |
M162V |
probably benign |
Het |
Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
Mib2 |
T |
C |
4: 155,740,036 (GRCm39) |
D739G |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,960,583 (GRCm39) |
F772S |
probably damaging |
Het |
Mtss1 |
C |
T |
15: 58,815,864 (GRCm39) |
M565I |
probably damaging |
Het |
Myt1l |
T |
G |
12: 29,964,292 (GRCm39) |
S1077A |
unknown |
Het |
Nalcn |
T |
C |
14: 123,555,265 (GRCm39) |
T873A |
probably benign |
Het |
Nwd1 |
T |
A |
8: 73,394,082 (GRCm39) |
H448Q |
possibly damaging |
Het |
Odad2 |
A |
G |
18: 7,214,727 (GRCm39) |
|
probably benign |
Het |
Or14j3 |
T |
C |
17: 37,901,232 (GRCm39) |
E4G |
probably benign |
Het |
Or51m1 |
A |
G |
7: 103,578,914 (GRCm39) |
I295V |
possibly damaging |
Het |
Or5j3 |
T |
C |
2: 86,128,904 (GRCm39) |
V248A |
probably damaging |
Het |
Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
Pdcd2 |
A |
G |
17: 15,742,054 (GRCm39) |
V292A |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,153,863 (GRCm39) |
Y477C |
probably damaging |
Het |
Rcbtb1 |
T |
C |
14: 59,462,131 (GRCm39) |
L254P |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rsl1 |
A |
C |
13: 67,330,227 (GRCm39) |
H225P |
probably damaging |
Het |
Sec14l2 |
T |
C |
11: 4,061,222 (GRCm39) |
I80V |
probably benign |
Het |
Sema6a |
G |
T |
18: 47,423,222 (GRCm39) |
D261E |
probably damaging |
Het |
Serpinb9b |
T |
A |
13: 33,223,806 (GRCm39) |
S333T |
probably benign |
Het |
Slc24a4 |
T |
C |
12: 102,200,941 (GRCm39) |
V277A |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,575 (GRCm39) |
H88L |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tmprss15 |
T |
A |
16: 78,782,790 (GRCm39) |
N758I |
probably damaging |
Het |
Ube3b |
C |
T |
5: 114,536,902 (GRCm39) |
A300V |
probably benign |
Het |
Vmn2r82 |
G |
A |
10: 79,192,542 (GRCm39) |
V40I |
probably benign |
Het |
Vsig4 |
G |
T |
X: 95,291,378 (GRCm39) |
Q265K |
probably benign |
Het |
Wdr91 |
T |
C |
6: 34,865,977 (GRCm39) |
D525G |
probably damaging |
Het |
|
Other mutations in Pramel16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01012:Pramel16
|
APN |
4 |
143,676,784 (GRCm39) |
splice site |
probably benign |
|
IGL01562:Pramel16
|
APN |
4 |
143,677,435 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02422:Pramel16
|
APN |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02745:Pramel16
|
APN |
4 |
143,677,294 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02808:Pramel16
|
APN |
4 |
143,677,585 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02883:Pramel16
|
APN |
4 |
143,676,418 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02961:Pramel16
|
APN |
4 |
143,675,717 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03092:Pramel16
|
APN |
4 |
143,676,767 (GRCm39) |
missense |
probably damaging |
0.97 |
FR4340:Pramel16
|
UTSW |
4 |
143,676,312 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4342:Pramel16
|
UTSW |
4 |
143,676,327 (GRCm39) |
frame shift |
probably null |
|
FR4342:Pramel16
|
UTSW |
4 |
143,676,312 (GRCm39) |
missense |
probably damaging |
0.99 |
R0533:Pramel16
|
UTSW |
4 |
143,677,290 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0606:Pramel16
|
UTSW |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
R1624:Pramel16
|
UTSW |
4 |
143,676,400 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1898:Pramel16
|
UTSW |
4 |
143,677,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Pramel16
|
UTSW |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
R2867:Pramel16
|
UTSW |
4 |
143,675,456 (GRCm39) |
missense |
probably benign |
0.00 |
R2867:Pramel16
|
UTSW |
4 |
143,675,456 (GRCm39) |
missense |
probably benign |
0.00 |
R2894:Pramel16
|
UTSW |
4 |
143,675,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R4111:Pramel16
|
UTSW |
4 |
143,676,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4298:Pramel16
|
UTSW |
4 |
143,675,713 (GRCm39) |
nonsense |
probably null |
|
R4360:Pramel16
|
UTSW |
4 |
143,677,433 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4361:Pramel16
|
UTSW |
4 |
143,677,433 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5137:Pramel16
|
UTSW |
4 |
143,675,690 (GRCm39) |
missense |
probably benign |
0.08 |
R5195:Pramel16
|
UTSW |
4 |
143,677,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R5312:Pramel16
|
UTSW |
4 |
143,675,665 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5548:Pramel16
|
UTSW |
4 |
143,676,550 (GRCm39) |
missense |
probably benign |
0.24 |
R5591:Pramel16
|
UTSW |
4 |
143,675,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Pramel16
|
UTSW |
4 |
143,675,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6018:Pramel16
|
UTSW |
4 |
143,677,469 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6177:Pramel16
|
UTSW |
4 |
143,675,576 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6335:Pramel16
|
UTSW |
4 |
143,675,602 (GRCm39) |
missense |
probably benign |
0.02 |
R6376:Pramel16
|
UTSW |
4 |
143,677,267 (GRCm39) |
missense |
probably benign |
0.03 |
R6572:Pramel16
|
UTSW |
4 |
143,676,262 (GRCm39) |
missense |
probably benign |
0.01 |
R6845:Pramel16
|
UTSW |
4 |
143,676,394 (GRCm39) |
missense |
probably benign |
|
R6939:Pramel16
|
UTSW |
4 |
143,675,366 (GRCm39) |
missense |
probably benign |
0.09 |
R7081:Pramel16
|
UTSW |
4 |
143,675,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R7505:Pramel16
|
UTSW |
4 |
143,676,273 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7711:Pramel16
|
UTSW |
4 |
143,675,822 (GRCm39) |
missense |
probably benign |
0.22 |
R8284:Pramel16
|
UTSW |
4 |
143,676,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8297:Pramel16
|
UTSW |
4 |
143,675,690 (GRCm39) |
missense |
probably benign |
0.08 |
R8299:Pramel16
|
UTSW |
4 |
143,677,327 (GRCm39) |
missense |
probably benign |
0.24 |
R8700:Pramel16
|
UTSW |
4 |
143,675,701 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9179:Pramel16
|
UTSW |
4 |
143,676,294 (GRCm39) |
missense |
probably benign |
0.01 |
R9199:Pramel16
|
UTSW |
4 |
143,675,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R9214:Pramel16
|
UTSW |
4 |
143,675,750 (GRCm39) |
missense |
probably benign |
0.00 |
R9411:Pramel16
|
UTSW |
4 |
143,676,215 (GRCm39) |
missense |
probably damaging |
1.00 |
RF011:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
RF013:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
RF021:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Pramel16
|
UTSW |
4 |
143,676,693 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2015-04-16 |